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Version October 2024
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Gene test interpretation: <i>ACKR1 </i>(Duffy blood group gene)
Gene test interpretation: <i>APC</i>
Gene test interpretation: <i>APOL1</i> (chronic kidney disease gene)
Gene test interpretation: <i>ARSA </i>(metachromatic leukodystrophy gene)
Gene test interpretation: <i>ATM</i> (ataxia-telangiectasia, breast cancer, and pancreatic cancer susceptibility gene)
Gene test interpretation: <i>ATP7B</i> (Wilson disease gene)
Gene test interpretation: <i>BMPR1A</i>
Gene test interpretation: <i>BRCA1</i> and <i>BRCA2</i>
Gene test interpretation: Cadherin 1 gene (<i>CDH1</i>)
Gene test interpretation: <i>CFTR</i>
Gene test interpretation: <i>CHEK2</i>
Gene test interpretation: <i>COL3A1</i> (vascular Ehlers-Danlos syndrome gene)
Gene test interpretation: Congenital long QT syndrome genes (<i>KCNQ1</i>, <i>KCNH2</i>, <i>SCN5A</i>)
Gene test interpretation: <i>CTNNA1</i>
Gene test interpretation: <i>F11</i> (gene for coagulation factor XI)
Gene test interpretation: Factor V Leiden
Gene test interpretation: Familial hypercholesterolemia genes (<i>LDLR</i>, <i>APOB</i>, <i>PCSK9</i>)
Gene test interpretation: <i>FBN1</i> (Marfan syndrome gene)
Gene test interpretation: <i>G6PD</i>
Gene test interpretation: <i>GLA</i> (Fabry disease gene)
Gene test interpretation: <i>HBA1 </i>and <i>HBA2 </i>(alpha globin genes)
Gene test interpretation: Hemoglobin C (Hb C) variant in the hemoglobin beta locus (<i>HBB</i>)
Gene test interpretation: <i>HEXA</i> (Tay-Sachs disease gene)
Gene test interpretation: <i>HFE</i> (hereditary hemochromatosis gene)
Gene test interpretation: <i>HNF1B</i> (renal cysts and diabetes syndrome gene)
Gene test interpretation: Hypertrophic cardiomyopathy genes (<i>MYBPC3</i>, <i>MYH7</i>, <i>TNNT2</i>, <i>TNNI3</i>, <i>MYL2</i>, <i>MYL3</i>, <i>ACTC1</i>, <i>TPM1</i>)
Gene test interpretation: Lynch syndrome genes (<i>MLH1</i>, <i>MSH2</i>, <i>MSH6</i>, <i>PMS2</i>, <i>EPCAM</i>)
Gene test interpretation: Malignant hyperthermia susceptibility genes (<i>RYR1, </i><i>CACNA1S</i>, and <i>STAC3</i>)
Gene test interpretation: <i>MEFV </i>(familial Mediterranean fever gene)
Gene test interpretation: MEN1 (multiple endocrine neoplasia)
Gene test interpretation: <i>MUTYH</i>
Gene test interpretation: <i>PALB2</i> (hereditary breast, ovarian, and pancreatic cancer susceptibility gene)
Gene test interpretation: Prothrombin G20210A
Gene test interpretation: <i>PTEN</i> (hamartoma tumor syndromes)
Gene test interpretation: <i>RB1</i>
Gene test interpretation: <i>RET </i>(multiple endocrine neoplasia type 2 gene)
Gene test interpretation: <i>RPE65</i>
Gene test interpretation: <i>SERPINA1</i> (alpha-1 antitrypsin gene)
Gene test interpretation: Sickle cell variant in the hemoglobin beta locus (<i>HBB</i>)
Gene test interpretation: <i>SMAD4</i>
Gene test interpretation: <i>STK11</i>
Gene test interpretation: <i>TP53</i> (Li-Fraumeni syndrome gene)
Gene test interpretation: <i>TSC1</i> and <i>TSC2</i> (tuberous sclerosis complex genes)
Gene test interpretation: <i>VHL</i>
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